Breaking News: Researchers Identify New ‘Brittle Bone’ Gene

Brittle bone disease, also known by its medical name, osteogenesis imperfecta, is a genetic disease that causes bones to grow weak and become at risk of easily breaking. Worse, people can die from the disease. Scientists had already identified two genes that are passed down from parent to child, causing a recessive version of brittle bone disease, but in January 2010, researchers identified a third gene that conclusively causes the disease. Business Week reported that researchers at U.S. National Institute of Health located the new gene. It is part of a protein that helps create the molecular structure of collagen, which creates the framework that helps bones grow strong.

Although most forms of osteogenesis imperfecta are dominant and this gene affects recessive forms, it is still a helpful breakthrough. Dominant forms of the disease require only a single mutated gene to move from parent to child to pass on the disease. But recessive forms require two tainted genes to pair up to pass the disease on. The researchers said that the discovery will give greater insight into the way in which collagen is produced and becomes bone, as well as what causes the recessive form of the disease.

The onset occurs at conception and remains during a person’s entire life. More so, it does not simply affect the bones and joints. Because the tiny bones in the ear help to hear, about 50 percent of people with brittle bone disease experience some amount of hearing loss.

Is There a Cure?
Although there is no cure for osteogenesis imperfecta, there are ways to mitigate the effects of brittle bone disease. For instance, when a bone becomes broken, it’s important to ensure that when it is set, that it is set correctly and doesn’t heal in a bad position. In some cases, patients will have metal rods inserted in their bones to prevent them from further breaking. It’s a good idea to get proper exercise without over doing it. Light strength training can help to keep bones as strong as possible.

As researchers continue to make breakthroughs and find new discoveries related to osteogenesis imperfecta, those with it will have a better chance of living a normal and active life. Not only can the disease itself become literally crippling, but the pain and discomfort can cripple a person’s everyday joy. The battle with brittle bones is a lifetime ordeal for those affected by it.

Read more: Top Five Misconceptions about Bone Diseases